Annotation Detail

Information
Associated Genes
TBXA2R
Associated Variants
TBXA2R p.Tyr308= (p.Y308=) ( ENST00000375190.10, ENST00000411851.3, ENST00000589966.1 )
TBXA2R p.Tyr308= (p.Y308=) ( ENST00000375190.10, ENST00000411851.3, ENST00000589966.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=) AND not provided
ClinVar Allele ID
256889
ClinVar RefSeq Alternation Syntax
NM_001060.6:c.924T>C
ClinVar RefSeq Alternation Syntax
NM_201636.3:c.924T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001536925
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs